Waardenburg anophthalmia syndrome

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Waardenburg anophthalmia syndrome
Synonyms
Pronounce
Specialty	Medical genetics
Symptoms	Anophthalmia, hearing loss, pigmentation abnormalities
Complications	N/A
Onset
Duration
Types
Causes	Mutations in the SOX2 gene
Risks
Diagnosis	Genetic testing, clinical evaluation
Differential diagnosis
Prevention
Treatment	Supportive care, hearing aids, ocular prosthetics
Medication
Prognosis
Frequency	Rare
Deaths

Waardenburg anophthalmia syndrome is a rare genetic disorder characterized by the absence of one or both eyes (anophthalmia) and hearing loss due to a defect in the inner ear (sensorineural deafness). The syndrome is named after Dutch ophthalmologist and geneticist Petrus Johannes Waardenburg, who first described the condition.

Etiology

Waardenburg anophthalmia syndrome is caused by mutations in the SMOC1 gene. This gene provides instructions for making a protein that is involved in the development of the eyes and ears. Mutations in the SMOC1 gene disrupt the normal development of these structures, leading to the characteristic features of Waardenburg anophthalmia syndrome.

Clinical Features

The most distinctive feature of Waardenburg anophthalmia syndrome is the absence of one or both eyes. This condition, known as anophthalmia, can cause severe visual impairment or blindness. Other eye abnormalities, such as small eyes (microphthalmia) or other structural defects, may also occur. Individuals with Waardenburg anophthalmia syndrome often have hearing loss. This is typically due to a defect in the inner ear, known as sensorineural deafness. Other features of the syndrome can include distinctive facial features, such as a broad nasal bridge and a high forehead, as well as abnormalities of the limbs, heart, and kidneys.

Diagnosis and Treatment

Diagnosis of Waardenburg anophthalmia syndrome is based on the characteristic clinical features. Genetic testing can confirm the diagnosis by identifying a mutation in the SMOC1 gene. Treatment for Waardenburg anophthalmia syndrome is supportive and depends on the specific symptoms present in each individual. This can include hearing aids for sensorineural deafness, prosthetic eyes for anophthalmia, and various therapies and interventions for other associated abnormalities.

Prognosis

The prognosis for individuals with Waardenburg anophthalmia syndrome varies depending on the severity of the symptoms. With appropriate management and support, many individuals with this syndrome can lead fulfilling lives.

See Also

• Anophthalmia
• Sensorineural deafness
• SMOC1
• Petrus Johannes Waardenburg

NIH genetic and rare disease info

• NIH info on Waardenburg anophthalmia syndrome

Waardenburg anophthalmia syndrome is a rare disease.

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